ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5223+4A>G (rs117109271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000261176 SCV000480332 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000479759 SCV000574212 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing The c.5223+4 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 60/8628 (0.70%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). However, this substitution occurs at a position that is conserved across species, and several in-silico splice prediction models predict that c.5223+4 A>G damages the natural splice donor site of intron 40. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000479759 SCV001055368 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing

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